Canonical Allele Identifier: CA433629613

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064249A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026816A>G , CM000665.2:g.49026816A>G	GRCh38
NC_000003.11:g.49064249A>G , CM000665.1:g.49064249A>G	GRCh37
NC_000003.10:g.49039253A>G	NCBI36
NG_012091.1:g.7627T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2730T>C	ENSP00000515567.1:p.Asn910=
ENST00000703937.1:c.*1791T>C	ENSP00000515568.1:n.*1791T>C
ENST00000326739.9:c.690T>C MANE Select	ENSP00000321584.4:p.Asn230=
ENST00000429182.6:c.690T>C	ENSP00000393525.2:p.Asn230=
ENST00000442157.2:c.615T>C	ENSP00000403502.2:p.Asn205=
ENST00000462980.2:n.1205T>C
ENST00000472328.2:n.756T>C
ENST00000491610.2:n.650T>C
ENST00000676607.1:n.986T>C
ENST00000676627.1:n.1420T>C
ENST00000676708.1:n.1970T>C
ENST00000676864.1:n.1839T>C
ENST00000677010.1:c.726T>C	ENSP00000503089.1:p.Asn242=
ENST00000677108.1:n.2596T>C
ENST00000677168.1:n.1162T>C
ENST00000677185.1:n.1253T>C
ENST00000677205.1:n.1474T>C
ENST00000677344.1:n.1964T>C
ENST00000677480.1:c.*367T>C	ENSP00000504378.1:n.*367T>C
ENST00000677519.1:n.1400T>C
ENST00000677593.1:n.1246T>C
ENST00000677740.1:n.2195T>C
ENST00000677991.1:n.1863T>C
ENST00000678001.1:n.1183T>C
ENST00000678085.1:n.1246T>C
ENST00000678177.1:n.2539T>C
ENST00000678603.1:n.1768T>C
ENST00000678724.1:c.615T>C	ENSP00000503874.1:p.Asn205=
ENST00000678920.1:n.848T>C
ENST00000679019.1:n.1460T>C
ENST00000679117.1:c.*505T>C	ENSP00000503240.1:n.*505T>C
ENST00000679339.1:n.1531T>C
ENST00000326739.8:c.690T>C	ENSP00000321584.4:p.Asn230=
ENST00000429182.5:c.484T>C
ENST00000442157.1:c.615T>C	ENSP00000403502.1:p.Asn205=
ENST00000462980.1:n.592T>C
ENST00000491610.1:n.650T>C
NM_000884.2:c.690T>C	NP_000875.2:p.Asn230=
XM_006713128.2:c.900T>C	XP_006713191.1:p.Asn300=
XM_006713128.3:c.900T>C	XP_006713191.1:p.Asn300=
XM_017006349.1:c.825T>C	XP_016861838.1:p.Asn275=
XM_017006350.1:c.825T>C	XP_016861839.1:p.Asn275=
NM_000884.3:c.690T>C MANE Select	NP_000875.2:p.Asn230=